Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0009806
Disease: Constipation
Constipation 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 424 57 0.100 None 0
CUI: C3203358
Disease: Hypoventilation
Hypoventilation 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Pathologic Function 28 2 0.100 None 0
CUI: C0003578
Disease: Apnea
Apnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 262 11 0.100 None 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
CUI: C0017075
Disease: Ganglioneuroma
Ganglioneuroma 		disease Neoplasms Neoplastic Process 88 2 0.100 None 0
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		disease Digestive System Diseases Disease or Syndrome 446 52 0.100 None 0
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		disease Nervous System Diseases Disease or Syndrome 148 18 0.100 None 0
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 29 15 0.610 limited 1.000 1 1 2003 2003
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.400 None 1.000 1 2011 2011
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 977 39 0.300 None 1.000 1 2013 2013
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 142 2 0.300 None 1.000 1 2011 2011
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 148 0.300 None 1.000 1 2011 2011
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 160 3 0.300 None 1.000 1 2011 2011
CUI: C0242488
Disease: Acute Lung Injury
Acute Lung Injury 		disease Respiratory Tract Diseases Injury or Poisoning 93 3 0.300 None 1.000 1 2010 2010
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 533 12 0.200 None 1.000 1 2001 2001
CUI: C0020507
Disease: Hyperplasia
Hyperplasia 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 131 0.200 None 1.000 1 2003 2003
CUI: C0235272
Disease: Retinal damage
Retinal damage 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Wounds and Injuries Disease or Syndrome 32 1 0.010 None 1.000 1 2017 2017
CUI: C0346300
Disease: Pituitary carcinoma
Pituitary carcinoma 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 13 1 0.010 None 1.000 1 2006 2006
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma 		disease Neoplasms Neoplastic Process 202 12 0.010 None 1.000 1 2005 2005
CUI: C4551548
Disease: Grade III Childhood Astrocytoma
Grade III Childhood Astrocytoma 		disease Neoplasms Neoplastic Process 90 8 0.010 None 1.000 1 2005 2005
CUI: C1857624
Disease: COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING
COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 7 0.010 None 1.000 1 2019 2019
CUI: C4082937
Disease: Necrotizing enterocolitis in fetus OR newborn
Necrotizing enterocolitis in fetus OR newborn 		disease Digestive System Diseases Disease or Syndrome 210 26 0.010 None < 0.001 1 2005 2005
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 163 66 0.010 None 1.000 1 1999 1999
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		disease Neoplasms Neoplastic Process 615 39 0.010 None 1.000 1 2005 2005
CUI: C0242363
Disease: Islet Cell Tumor
Islet Cell Tumor 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 108 5 0.010 None 1.000 1 2009 2009